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A Gain-of-Function Mutation on BCKDK Gene and Its Possible Pathogenic Role in Branched-Chain Amino Acid Metabolism.
Maguolo A, Rodella G, Giorgetti A, Nicolodi M, Ribeiro R, Dianin A, Cantalupo G, Monge I, Carcereri S, De Bernardi ML, Delledonne M, Pasini A, Campostrini N, Ion Popa F, Piacentini G, Teofoli F, Vincenzi M, Camilot M, Bordugo A. Maguolo A, et al. Among authors: piacentini g. Genes (Basel). 2022 Jan 26;13(2):233. doi: 10.3390/genes13020233. Genes (Basel). 2022. PMID: 35205278 Free PMC article.
Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience.
Maguolo A, Rodella G, Dianin A, Nurti R, Monge I, Rigotti E, Cantalupo G, Salviati L, Tucci S, Pellegrini F, Molinaro G, Lupi F, Tonin P, Pasini A, Campostrini N, Ion Popa F, Teofoli F, Vincenzi M, Camilot M, Piacentini G, Bordugo A. Maguolo A, et al. Among authors: piacentini g. Mol Genet Metab Rep. 2020 Aug 5;24:100632. doi: 10.1016/j.ymgmr.2020.100632. eCollection 2020 Sep. Mol Genet Metab Rep. 2020. PMID: 32793418 Free PMC article.
Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy.
Maguolo A, Rodella G, Dianin A, Monge I, Messina M, Rigotti E, Pellegrini F, Molinaro G, Lupi F, Pasini A, Campostrini N, Ion Popa F, Teofoli F, Vincenzi M, Camilot M, Piacentini G, Bordugo A. Maguolo A, et al. Among authors: piacentini g. Front Pediatr. 2021 May 31;9:661416. doi: 10.3389/fped.2021.661416. eCollection 2021. Front Pediatr. 2021. PMID: 34136440 Free PMC article.
Sleep disordered breathing in children with achondroplasia.
Zaffanello M, Cantalupo G, Piacentini G, Gasperi E, Nosetti L, Cavarzere P, Ramaroli DA, Mittal A, Antoniazzi F. Zaffanello M, et al. Among authors: piacentini g. World J Pediatr. 2017 Feb;13(1):8-14. doi: 10.1007/s12519-016-0051-9. Epub 2016 Oct 15. World J Pediatr. 2017. PMID: 27830579 Review.
A novel de novo partial xq duplication in a girl with short stature, nonverbal learning disability and diminished ovarian reserve - effect of growth hormone treatment and fertility preservation strategies: a case report and up-to-date review.
Parissone F, Pucci M, Meneghelli E, Zuffardi O, Di Paola R, Zaffagnini S, Franchi M, Santangelo E, Cantalupo G, Cavarzere P, Antoniazzi F, Piacentini G, Gaudino R. Parissone F, et al. Among authors: piacentini g. Int J Pediatr Endocrinol. 2020;2020:1. doi: 10.1186/s13633-019-0071-z. Epub 2020 Jan 9. Int J Pediatr Endocrinol. 2020. PMID: 31938033 Free PMC article.
Pharmacogenomics: A Step forward Precision Medicine in Childhood Asthma.
Ferrante G, Fasola S, Malizia V, Licari A, Cilluffo G, Piacentini G, La Grutta S. Ferrante G, et al. Among authors: piacentini g. Genes (Basel). 2022 Mar 28;13(4):599. doi: 10.3390/genes13040599. Genes (Basel). 2022. PMID: 35456405 Free PMC article. Review.
411 results